Incidental Mutation 'R7603:Glipr1'
ID 588123
Institutional Source Beutler Lab
Gene Symbol Glipr1
Ensembl Gene ENSMUSG00000056888
Gene Name GLI pathogenesis related 1
Synonyms mRTVP-1, RTVP-1, RTVP1, 2410114O14Rik
MMRRC Submission 045713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7603 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 111821353-111838536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111824737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 156 (N156K)
Ref Sequence ENSEMBL: ENSMUSP00000074359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074805] [ENSMUST00000161870] [ENSMUST00000162508] [ENSMUST00000163048] [ENSMUST00000174653]
AlphaFold Q9CWG1
Predicted Effect probably benign
Transcript: ENSMUST00000074805
AA Change: N156K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074359
Gene: ENSMUSG00000056888
AA Change: N156K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SCP 32 172 4.04e-55 SMART
transmembrane domain 222 244 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161870
AA Change: N34K

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134094
Gene: ENSMUSG00000056888
AA Change: N34K

DomainStartEndE-ValueType
Pfam:CAP 1 42 9.2e-10 PFAM
low complexity region 82 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162508
AA Change: N156K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123990
Gene: ENSMUSG00000056888
AA Change: N156K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SCP 32 172 4.04e-55 SMART
transmembrane domain 222 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163048
SMART Domains Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 246 264 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
low complexity region 339 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174653
SMART Domains Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 265 277 N/A INTRINSIC
low complexity region 282 306 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,071,084 (GRCm39) K1536E possibly damaging Het
Abhd16a T A 17: 35,320,936 (GRCm39) probably null Het
Actrt3 C T 3: 30,652,696 (GRCm39) A133T probably benign Het
Adcy10 C T 1: 165,391,806 (GRCm39) R1329W probably damaging Het
Apol7b T C 15: 77,307,656 (GRCm39) M280V possibly damaging Het
Canx A T 11: 50,202,455 (GRCm39) D50E probably benign Het
Csmd1 A T 8: 16,338,696 (GRCm39) D470E probably damaging Het
Cyp2c23 C T 19: 44,003,369 (GRCm39) D269N probably damaging Het
Ddah1 T C 3: 145,464,774 (GRCm39) V53A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fastkd5 A G 2: 130,456,961 (GRCm39) V543A possibly damaging Het
Fggy G A 4: 95,657,743 (GRCm39) G295R probably damaging Het
Frs2 T C 10: 116,909,968 (GRCm39) T465A probably benign Het
Gnpnat1 C T 14: 45,622,074 (GRCm39) V40I probably benign Het
H2-Q7 T C 17: 35,658,939 (GRCm39) L130P probably damaging Het
Herc1 T A 9: 66,358,665 (GRCm39) L86* probably null Het
Hspg2 T C 4: 137,275,679 (GRCm39) L2778P probably damaging Het
Hspg2 T A 4: 137,284,503 (GRCm39) I3487N possibly damaging Het
Htra4 T G 8: 25,515,716 (GRCm39) I441L probably benign Het
Ints7 A T 1: 191,328,336 (GRCm39) H203L probably damaging Het
Lama2 T C 10: 27,142,676 (GRCm39) T601A possibly damaging Het
Lin7b T C 7: 45,017,856 (GRCm39) probably benign Het
Lmbr1l G A 15: 98,806,572 (GRCm39) Q280* probably null Het
Lpin3 G T 2: 160,745,674 (GRCm39) probably null Het
Map1lc3b A T 8: 122,320,268 (GRCm39) H27L possibly damaging Het
Mfsd14a C A 3: 116,427,532 (GRCm39) V369F probably damaging Het
Ndufa12 C T 10: 94,056,641 (GRCm39) A123V probably benign Het
Nek9 A G 12: 85,350,288 (GRCm39) F929L probably benign Het
Nup210 A T 6: 91,053,679 (GRCm39) D279E probably benign Het
Or52m2 A G 7: 102,264,145 (GRCm39) V17A probably benign Het
Parp1 T C 1: 180,427,777 (GRCm39) probably null Het
Phc3 T C 3: 30,961,601 (GRCm39) I944V probably damaging Het
Phf20 C T 2: 156,144,771 (GRCm39) A793V probably benign Het
Phf21a A C 2: 92,187,352 (GRCm39) R540S probably benign Het
Pogk A G 1: 166,229,480 (GRCm39) C124R probably benign Het
Rif1 C T 2: 51,966,187 (GRCm39) S93L probably damaging Het
Sanbr T C 11: 23,516,191 (GRCm39) T709A probably benign Het
Sele A G 1: 163,877,084 (GRCm39) E120G probably damaging Het
Slc4a1ap T C 5: 31,703,539 (GRCm39) L49P Het
Snap47 T C 11: 59,319,373 (GRCm39) D255G probably damaging Het
Tcstv3 T C 13: 120,779,146 (GRCm39) V15A probably damaging Het
Tmcc1 A T 6: 116,020,092 (GRCm39) Y453* probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Usp20 T A 2: 30,901,486 (GRCm39) V459E probably damaging Het
Vmn1r202 A T 13: 22,685,790 (GRCm39) L209Q probably damaging Het
Vps13b T C 15: 35,576,585 (GRCm39) S998P probably damaging Het
Other mutations in Glipr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Glipr1 APN 10 111,821,555 (GRCm39) missense probably benign
IGL00553:Glipr1 APN 10 111,822,574 (GRCm39) missense possibly damaging 0.79
IGL02391:Glipr1 APN 10 111,824,799 (GRCm39) unclassified probably benign
R0115:Glipr1 UTSW 10 111,829,446 (GRCm39) missense probably benign 0.00
R0486:Glipr1 UTSW 10 111,832,754 (GRCm39) splice site probably benign
R1349:Glipr1 UTSW 10 111,829,437 (GRCm39) missense probably benign 0.02
R1822:Glipr1 UTSW 10 111,832,765 (GRCm39) missense possibly damaging 0.84
R4364:Glipr1 UTSW 10 111,821,542 (GRCm39) missense possibly damaging 0.84
R4905:Glipr1 UTSW 10 111,821,545 (GRCm39) missense probably damaging 1.00
R4974:Glipr1 UTSW 10 111,829,411 (GRCm39) nonsense probably null
R5734:Glipr1 UTSW 10 111,821,698 (GRCm39) nonsense probably null
R8238:Glipr1 UTSW 10 111,829,345 (GRCm39) critical splice donor site probably null
R9489:Glipr1 UTSW 10 111,832,801 (GRCm39) missense probably damaging 1.00
R9605:Glipr1 UTSW 10 111,832,801 (GRCm39) missense probably damaging 1.00
Z1176:Glipr1 UTSW 10 111,824,742 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGTGTGTATAAACATACCCACACAG -3'
(R):5'- CACACTGTTCTGAGACTGTAACTC -3'

Sequencing Primer
(F):5'- CCCACACAGTATTAATGTAGTAAGTC -3'
(R):5'- CCAGCTGAGTTCTGAGTGCTTAAC -3'
Posted On 2019-10-24